COL4A5 c.5048G>T ;(p.R1683L)

Variant ID: X-107939580-G-T

NM_033380.2(COL4A5):c.5048G>T;(p.R1683L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: COL4A5: 5048G>T; Arg1683Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 5048G>T; Arg1683Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Annals Of Internal Medicine
Lata, Sneh S; Marasa, Maddalena M; Li, Yifu Y; Fasel, David A DA; Groopman, Emily E; Jobanputra, Vaidehi V; Rasouly, Hila H; Mitrotti, Adele A; Westland, Rik R; Verbitsky, Miguel M; Nestor, Jordan J; Slater, Lindsey M LM; D'Agati, Vivette V; Zaniew, Marcin M; Materna-Kiryluk, Anna A; Lugani, Francesca F; Caridi, Gianluca G; Rampoldi, Luca L; Mattoo, Aditya A; Newton, Chad A CA; Rao, Maya K MK; Radhakrishnan, Jai J; Ahn, Wooin W; Canetta, Pietro A PA; Bomback, Andrew S AS; Appel, Gerald B GB; Antignac, Corinne C; Markowitz, Glen S GS; Garcia, Christine K CK; Kiryluk, Krzysztof K; Sanna-Cherchi, Simone S; Gharavi, Ali G AG
Publication Date: 2018-01-16

Variant appearance in text: rs104886308
PubMed Link: 29204651
Variant Present in the following documents:
  • Main text
View BVdb publication page